Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

249 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Correlations Between Cardiac Magnetic Resonance and Myocardial Histologic Findings in Fabry Disease.
Ditaranto R, Leone O, Lovato L, Niro F, Cenacchi G, Papa V, Baldovini C, Ferracin M, Salamon I, Kurdi H, Parisi V, Capelli I, Pession A, Liguori R, Potena L, Seri M, Martin Suarez S, Galiè N, Moon JC, Biagini E. Ditaranto R, et al. Among authors: cenacchi g. JACC Cardiovasc Imaging. 2023 Dec;16(12):1629-1632. doi: 10.1016/j.jcmg.2023.06.011. Epub 2023 Aug 2. JACC Cardiovasc Imaging. 2023. PMID: 37542504 No abstract available.
Fabry Disease Nephropathy: Histological Changes With Nonclassical Mutations and Genetic Variants of Unknown Significance.
Santostefano M, Cappuccilli M, Gibertoni D, Fabbrizio B, Malvi D, Demetri M, Capelli I, Tringali E, Papa V, Biagini E, Cenacchi G, Galdi A, Donadio V, Liguori R, Zoli G, La Manna G, Pasquinelli G. Santostefano M, et al. Among authors: cenacchi g. Am J Kidney Dis. 2023 Nov;82(5):581-596.e0. doi: 10.1053/j.ajkd.2023.03.015. Epub 2023 Jun 9. Am J Kidney Dis. 2023. PMID: 37301502
Magnetic resonance imaging scoring system of the lower limbs in adult patients with suspected idiopathic inflammatory myopathy.
Gramegna LL, Rinaldi R, Belotti LMB, Vignatelli L, Sighinolfi G, Papa V, Costa R, D'Angelo R, Bianchini C, Graziano C, Cirignotta L, Mule R, Manners DN, Tonon C, Cenacchi G, Lodi R. Gramegna LL, et al. Among authors: cenacchi g. Neurol Sci. 2024 Feb 21. doi: 10.1007/s10072-024-07386-y. Online ahead of print. Neurol Sci. 2024. PMID: 38383748
IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.
Gardella E, Michelucci R, Christensen HM, Fenger CD, Reale C, Riguzzi P, Pasini E, Albini-Riccioli L, Papa V, Foschini MP, Cenacchi G, Furia F, Marjanovic D, Hammer TB, Møller RS, Rubboli G. Gardella E, et al. Among authors: cenacchi g. Epilepsia. 2023 Aug;64(8):e170-e176. doi: 10.1111/epi.17634. Epub 2023 Jun 8. Epilepsia. 2023. PMID: 37114479
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.
Pettenuzzo I, Carli S, Sánchez-Cuesta A, Isidori F, Montanari F, Grippa M, Lanzoni G, Ambrosetti I, Di Pisa V, Cordelli DM, Mondardini MC, Pippucci T, Ragni L, Cenacchi G, Costa R, Lima M, Capristo MA, Tropeano CV, Caporali L, Carelli V, Brunelli E, Maffei M, Ahmed Sheikhmaye H, Fetta A, Brea-Calvo G, Garone C. Pettenuzzo I, et al. Among authors: cenacchi g. Eur J Hum Genet. 2024 May 3. doi: 10.1038/s41431-024-01615-w. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38702428
Expanding the Clinical Spectrum of UBTF-Related Neurodevelopmental Disorder.
Pietra A, Palombo F, Giannotta M, Maffei M, Fiorini C, Costa R, Cenacchi G, Carelli V, Cordelli DM, Pini A, Garone C. Pietra A, et al. Among authors: cenacchi g. Neurol Genet. 2023 Nov 14;9(6):e200098. doi: 10.1212/NXG.0000000000200098. eCollection 2023 Dec. Neurol Genet. 2023. PMID: 38235043 Free PMC article.
Cardiac Functional and Structural Abnormalities in a Mouse Model of CDKL5 Deficiency Disorder.
Loi M, Bastianini S, Candini G, Rizzardi N, Medici G, Papa V, Gennaccaro L, Mottolese N, Tassinari M, Uguagliati B, Berteotti C, Martire VL, Zoccoli G, Cenacchi G, Trazzi S, Bergamini C, Ciani E. Loi M, et al. Among authors: cenacchi g. Int J Mol Sci. 2023 Mar 14;24(6):5552. doi: 10.3390/ijms24065552. Int J Mol Sci. 2023. PMID: 36982627 Free PMC article.
249 results